Canonical Allele Identifier: CA2687083976
Gene: AP3M2 HGNC NCBI

Linked Data

gnomAD v4: 8-42169484-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.42169484C>A , CM000670.2:g.42169484C>A GRCh38
NC_000008.10:g.42027002C>A , CM000670.1:g.42027002C>A GRCh37
NC_000008.9:g.42146159C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000396926.8:c.*423C>A MANE Select ENSP00000380132.3:n.*423C>A
ENST00000174653.3:c.*423C>A ENSP00000174653.3:n.*423C>A
ENST00000396926.7:c.*423C>A ENSP00000380132.3:n.*423C>A
ENST00000518421.5:c.*423C>A ENSP00000428787.1:n.*423C>A
ENST00000520689.1:c.371+199C>A ENSP00000429804.1:n.371+199C>A
NM_001134296.1:c.*423C>A NP_001127768.1:n.*423C>A
NM_006803.3:c.*423C>A NP_006794.1:n.*423C>A
XM_017012977.2:c.*423C>A XP_016868466.1:n.*423C>A
XR_001745459.2:n.1965C>A
NM_006803.4:c.*423C>A MANE Select NP_006794.1:n.*423C>A
NM_001134296.2:c.*423C>A NP_001127768.1:n.*423C>A
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